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https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#1
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28643803/vhl-deficiency-augments-anthracycline-sensitivity-of-clear-cell-renal-cell-carcinomas-by-down-regulating-aldh2
#2
Yao-Hui Gao, Zhao-Xia Wu, Li-Qi Xie, Cai-Xia Li, Yu-Qin Mao, Yan-Tao Duan, Bing Han, San-Feng Han, Yun Yu, Hao-Jie Lu, Peng-Yuan Yang, Tian-Rui Xu, Jing-Lin Xia, Guo-Qiang Chen, Li-Shun Wang
The von Hippel-Lindau (VHL) is deficient in ∼70% of clear-cell renal cell carcinomas (ccRCC), which contributes to the carcinogenesis and drug resistance of ccRCC. Here we show that VHL-deficient ccRCC cells present enhanced cytotoxicity of anthracyclines in a hypoxia-inducible factor-independent manner. By subtractive proteomic analysis coupling with RNAi or overexpression verification, aldehyde dehydrogenase 2 (ALDH2) is found to be transcriptionally regulated by VHL and contributes to enhanced anthracyclines cytotoxicity in ccRCC cells...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28632992/targeting-the-rhogtpase-rock-pathway-for-the-treatment-of-vhl-hif-pathway-driven-cancers
#3
Jordan M Thompson, Jaime Landman, Olga V Razorenova
The loss of the von Hippel-Lindau (VHL) tumor-suppressor is a major driver of Clear Cell Renal Cell Carcinoma (CC-RCC) resulting in the stabilization and overactivation of hypoxia inducible factors (HIFs). ROCK 1 is a well-known protein serine/threonine kinase which is recognized as having a role in cancer including alterations in cell motility, metastasis and angiogenesis. As a function of the later effect, we recently investigated and identified a synthetic lethal interaction between VHL loss and ROCK1 inhibition in CC-RCC that is dependent on HIF overactivation...
June 20, 2017: Small GTPases
https://www.readbyqxmd.com/read/28630796/von-hippel-lindau-disease-the-importance-of-retinal-hemangioblastomas-in-diagnosis
#4
Sevinç Şahin Atik, Aslı Ece Solmaz, Zafer Öztaş, Emine Deniz Eğrilmez, Şeyda Uğurlu, Tahir Atik, Filiz Afrashi
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-year-old man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation. Family history showed that his mother had unilateral vision loss and died because of renal cell carcinoma. Ophthalmologic examination revealed multiple retinal hemangioblastomas in both eyes...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630416/hif-1-mediated-suppression-of-mitochondria-electron-transport-chain-function-confers-resistance-to-lidocaine-induced-cell-death
#5
Akihisa Okamoto, Chisato Sumi, Hiromasa Tanaka, Munenori Kusunoki, Teppei Iwai, Kenichiro Nishi, Yoshiyuki Matsuo, Hiroshi Harada, Keizo Takenaga, Hidemasa Bono, Kiichi Hirota
The local anesthetic lidocaine induces cell death by altering reactive oxygen species (ROS) generation and mitochondrial electron transport chain function. Because hypoxia-inducible factor 1 (HIF-1) is involved in determining oxygen metabolism and mitochondria function, we investigated the involvement of HIF-1 activity in lidocaine-induced cell death. We investigated the role of HIF activation on lidocaine-induced caspase activation and cell death in renal cell-derived RCC4 cells lacking functional von Hippel-Lindau (VHL) protein...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28624320/prognostic-value-of-the-vhl-hif-1%C3%AE-and-vegf-signaling-pathway-and-associated-mapk-erk1-2-and-erk5-pathways-in-clear-cell-renal-cell-carcinoma-a-long-term-study
#6
Antonio S Salinas-Sánchez, Leticia Serrano-Oviedo, Syongh Y Nam-Cha, Olga Roche-Losada, Ricardo Sánchez-Prieto, José M Giménez-Bachs
BACKGROUND: The prognostic value of molecular markers in renal cell carcinoma has been investigated in several studies. Although their value is still not confirmed, various proteins are important. We describe the effect on long-term survival of the status of the von Hippel-Lindau (VHL) hypoxia-inducible factor 1-α (HIF1-α) signaling pathway as well as associated mitogen-activated protein kinase (extracellular signal-regulated kinase [ERK]1/2 and ERK5). PATIENTS AND METHODS: A prospective, longitudinal cohort study was conducted with 50 patients diagnosed with clear-cell renal cell carcinoma to analyze VHL mutations and hypermethylation as well as VHL, HIF1-α, vascular endothelial growth factor (VEGF), ERK1/2, and ERK5 protein expression...
May 25, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28620133/the-pvhl172-isoform-is-not-a-tumor-suppressor-and-up-regulates-a-subset-of-pro-tumorigenic-genes-including-tgfb1-and-mmp13
#7
P Hascoet, F Chesnel, F Jouan, C Le Goff, A Couturier, E Darrigrand, F Mahé, N Rioux-Leclercq, X Le Goff, Y Arlot-Bonnemains
The von Hippel-Lindau (VHL) tumor suppressor gene is often deleted or mutated in ccRCC (clear cell renal cell carcinoma) producing a non-functional protein. The gene encodes two mRNA, and three protein isoforms (pVHL213, pVHL160 and pVHL172). The pVHL protein is part of an E3 ligase complex involved in the ubiquitination and proteasomal degradation of different proteins, particularly hypoxia inducible factors (HIF) that drive the transcription of genes involved in the regulation of cell proliferation, angiogenesis or extracellular matrix remodelling...
June 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28620007/von-hippel-lindau-and-hereditary-pheochromocytoma-paraganglioma-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#8
REVIEW
Surya P Rednam, Ayelet Erez, Harriet Druker, Katherine A Janeway, Junne Kamihara, Wendy K Kohlmann, Katherine L Nathanson, Lisa J States, Gail E Tomlinson, Anita Villani, Stephan D Voss, Joshua D Schiffman, Jonathan D Wasserman
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28619980/pan-cancer-analysis-pinpoints-targets-in-pi3k-pathway
#9
(no author information available yet)
A new study of all 32 cancer types in The Cancer Genome Atlas identifies genomic alterations that increase the activity of the PI3K/AKT/mTOR pathway. The study, which combines mutation data with measures of protein levels and phosphorylation status, suggests that mutations in IDH1, VHL, and STK11 promote activation of the pathway and may point to new drug targets.
June 15, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28614802/mitochondrial-dysregulation-and-glycolytic-insufficiency-functionally-impair-cd8-t-cells-infiltrating-human-renal-cell-carcinoma
#10
Peter J Siska, Kathryn E Beckermann, Frank M Mason, Gabriela Andrejeva, Allison R Greenplate, Adam B Sendor, Yun-Chen J Chiang, Armando L Corona, Lelisa F Gemta, Benjamin G Vincent, Richard C Wang, Bumki Kim, Jiyong Hong, Chiu-Lan Chen, Timothy N Bullock, Jonathan M Irish, W Kimryn Rathmell, Jeffrey C Rathmell
Cancer cells can inhibit effector T cells (Teff) through both immunomodulatory receptors and the impact of cancer metabolism on the tumor microenvironment. Indeed, Teff require high rates of glucose metabolism, and consumption of essential nutrients or generation of waste products by tumor cells may impede essential T cell metabolic pathways. Clear cell renal cell carcinoma (ccRCC) is characterized by loss of the tumor suppressor von Hippel-Lindau (VHL) and altered cancer cell metabolism. Here, we assessed how ccRCC influences the metabolism and activation of primary patient ccRCC tumor infiltrating lymphocytes (TIL)...
June 15, 2017: JCI Insight
https://www.readbyqxmd.com/read/28601978/recurrent-or-symptomatic-residual-posterior-fossa-hemangioblastomas-how-are-they-different-from-their-primary-counterparts
#11
Shruti Gupta, Lily Pal, Jayesh C Sardhara, Awadhesh K Jaiswal, Arun Srivastava, Anant Mehrotra, Kuntal Kanti Das, Sanjay Behari
BACKGROUND: Posterior fossa hemangioblastomas are WHO grade I benign lesions with a surprisingly high recurrence rate. This study determines the factors responsible for recurrence and the clinico-radiological and histopathological differences between primary (group A; n = 60) and recurrent/symptomatic residual (group B; n = 24) tumors. METHODS: Radiologically, tumors were differentiated into cystic, cystic with a mural nodule, solid-cystic/microcystic and solid...
June 11, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28600465/loss-of-vhl-trp53-and-rb1-induces-clear-cell-renal-carcinoma-in-mice
#12
(no author information available yet)
An autochthonous mouse model of clear cell renal cell carcinoma (ccRCC) recapitulates the human disease.
June 9, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28595007/impact-of-target-warhead-and-linkage-vector-on-inducing-protein-degradation-comparison-of-bromodomain-and-extra-terminal-bet-degraders-derived-from-triazolodiazepine-jq1-and-tetrahydroquinoline-i-bet726-bet-inhibitor-scaffolds
#13
Kwok-Ho Chan, Michael Zengerle, Andrea Testa, Alessio Ciulli
The design of proteolysis-targeting chimeras (PROTACs) is a powerful small-molecule approach for inducing protein degradation. PROTACs conjugate a target warhead to an E3 ubiquitin ligase ligand via a linker. Here we examined the impact of derivatizing two different BET bromodomain inhibitors, triazolodiazepine JQ1 and the more potent tetrahydroquinoline I-BET726, via distinct exit vectors, using different polyethylene glycol linkers to VHL ligand VH032. Triazolodiazepine PROTACs exhibited positive cooperativities of ternary complex formation, and were more potent degraders than tetrahydroquinoline compounds, which showed negative cooperativities instead...
June 8, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28593993/myc-activation-cooperates-with-vhl-and-ink4a-arf-loss-to-induce-clear-cell-renal-cell-carcinoma
#14
Sean T Bailey, Aleisha M Smith, Jordan Kardos, Sara E Wobker, Harper L Wilson, Bhavani Krishnan, Ryoichi Saito, Hyo Jin Lee, Jing Zhang, Samuel C Eaton, Lindsay A Williams, Ujjawal Manocha, Dorien J Peters, Xinchao Pan, Thomas J Carroll, Dean W Felsher, Vonn Walter, Qing Zhang, Joel S Parker, Jen Jen Yeh, Richard A Moffitt, Janet Y Leung, William Y Kim
Renal carcinoma is a common and aggressive malignancy whose histopathogenesis is incompletely understood and that is largely resistant to cytotoxic chemotherapy. We present two mouse models of kidney cancer that recapitulate the genomic alterations found in human papillary (pRCC) and clear cell RCC (ccRCC), the most common RCC subtypes. MYC activation results in highly penetrant pRCC tumours (MYC), while MYC activation, when combined with Vhl and Cdkn2a (Ink4a/Arf) deletion (VIM), produce kidney tumours that approximate human ccRCC...
June 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28591624/crystal-structure-of-the-cul2-rbx1-elobc-vhl-ubiquitin-ligase-complex
#15
Teresa A F Cardote, Morgan S Gadd, Alessio Ciulli
Cullin RING E3 ubiquitin ligases (CRLs) function in the ubiquitin proteasome system to catalyze the transfer of ubiquitin from E2 conjugating enzymes to specific substrate proteins. CRLs are large dynamic complexes and attractive drug targets for the development of small-molecule inhibitors and chemical inducers of protein degradation. The atomic details of whole CRL assembly and interactions that dictate subunit specificity remain elusive. Here we present the crystal structure of a pentameric CRL2(VHL) complex, composed of Cul2, Rbx1, Elongin B, Elongin C, and pVHL...
June 6, 2017: Structure
https://www.readbyqxmd.com/read/28589383/von-hippel-lindau-disease-a-single-gene-several-hereditary-tumors
#16
REVIEW
J Crespigio, L C L Berbel, M A Dias, R F Berbel, S S Pereira, D Pignatelli, T L Mazzuco
The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with different phenotypes from family to family, affecting different organs during the lifetime. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina, renal carcinomas and cysts, bilateral pheochromocytomas, cystic and solid tumors of the pancreas, cystadenomas of the epididymis, and endolymphatic sac tumors...
June 6, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28585398/genetic-status-determines-18-f-fdg-uptake-in-pheochromocytoma-paraganglioma
#17
Ankita Tiwari, Nalini Shah, Vijaya Sarathi, Gaurav Malhotra, Ganesh Bakshi, Gagan Prakash, Kranti Khadilkar, Reshma Pandit, Anurag Lila, Tushar Bandgar
INTRODUCTION: Although few studies have demonstrated utility of (18) F- fluoro-2-deoxy-d-glucose positron emission tomography/computerised tomography ((18) F-FDG PET/CT) in benign pheochromocytoma/paragangliomas (PCC/PGLs), there limited data on factors predicting the FDG uptake in PCC/PGL. METHODS: The study was conducted at a tertiary health care centre. In addition to the routine investigations, all patients (n = 96) with PCC/PGL were evaluated with (18) F-FDGPET/CT and majority (n = 78) underwent (131) I-metaiodobenzyl guanidine ((131) I-MIBG) scintigraphy...
June 5, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28582447/action-of-ym155-on-clear-cell-renal-cell-carcinoma-does-not-depend-on-survivin-expression-levels
#18
Mei Yi Sim, Hung Huynh, Mei Lin Go, John Shyi Peng Yuen
The dioxonapthoimidazolium YM155 is a survivin suppressant which has been investigated as an anticancer agent in clinical trials. Here, we investigated its growth inhibitory properties on a panel of immortalized and patient derived renal cell carcinoma (RCC) cell lines which were either deficient in the tumour suppressor von Hippel-Lindau (VHL) protein or possessed a functional copy. Neither the VHL status nor the survivin expression levels of these cell lines influenced their susceptibility to growth inhibition by YM155...
2017: PloS One
https://www.readbyqxmd.com/read/28580172/ralbp1-and-p19-vhl-play-an-oncogenic-role-and-p30-vhl-plays-a-tumor-suppressor-role-during-the-blebbishield-emergency-program
#19
Goodwin G Jinesh, Ashish M Kamat
Cancer stem cells evade apoptotic death by blebbishield emergency program, which constructs blebbishields from apoptotic bodies and drives cellular transformation. Von Hippel-Lindau (VHL) plays both tumor suppressor and oncogenic roles, and the reason behind is poorly understood. Here we demonstrate that dimers and trimers of p19-VHL interact with RalBP1 to construct blebbishields. Expression of RalBP1, p19-VHL, and high-molecular weight VHL is required to evade apoptosis by blebbishield-mediated transformation...
2017: Cell Death Discovery
https://www.readbyqxmd.com/read/28578000/centrosomal-mcm7-strengthens-the-cep68-vhl-interaction-and-excessive-mcm7-leads-to-centrosome-splitting-resulting-from-increase-in-cep68-ubiquitination-and-proteasomal-degradation
#20
Lingjun Kong, Huilong Yin, Li Yuan
We have recently reported that Rootletin prevents Cep68 from VHL-mediated proteasomal degradation to maintain centrosome cohesion, unveiling the first underlying mechanism of a linker protein required for maintenance of centrosome cohesion. The minichromosome maintenance (MCM) proteins 2-7 have long been noticed to localize to centrosomes, but their functions at the centrosome are presently unknown. Here, we show that MCM7 directly binds to the centrosomal linker protein Cep68 in vitro and complexes with Cep68 and VHL in vivo...
May 31, 2017: Biochemical and Biophysical Research Communications
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